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A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl With Craniofrontonasal Syndrome

Author
APOSTOLOPOULOU, Despina1 2 ; STRATOUDAKIS, Alexander3 ; HATZAKI, Angeliki4 ; KAXIRA, Olga S5 ; PANAGOPOULOS, Kanaris P6 ; KOLLIA, Panagoula7 ; ALEPOROU, Vassiliki7
[1] Department of Genetics and Biotechnology, Faculty of Biology, School of Physical Sciences, National and Kapodistrian University of Athens, Athens, Greece
[2] Department of Genetics and Molecular Biology, and Member, Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece
[3] Plastic and Craniofacial Surgeon and Head, Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece
[4] Molecular Biology Lab Senior, Department of Genetics and Molecular Biology, and Member, Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece
[5] Plastic Surgeon and Member, Hellenic Craniofacial Center, MITERA General. Maternity and Children Hospital, Athens, Greece
[6] Neurosurgeon, YGEIA General Hospital, Athens, Greece
[7] Department of Genetics and Biotechnology, Faculty of Biology, School of Physical Sciences, National and Kapodistrian University of Athens, Athens, Greece
Source

The Cleft palate-craniofacial journal. 2012, Vol 49, Num 1, pp 109-113, 5 p ; ref : 1/4 p

ISSN
1055-6656
Scientific domain
Otorhinolaryngology, stomatology, dentistry
Publisher
American Cleft Palate-Craniofacial Association, Chapel Hill, NC
Publication country
Canada
Document type
Article
Language
English
Author keyword
CFNS coronal craniosynostosis craniofacial reconstruction, EFN81 gene ephrins missense mutation telorbitism
Keyword (fr)
Crâniofacial Crâniosynostose Enfant Gène Mutation Reconstruction anatomique Stomatologie Traitement Crâniofrontonasal syndrome Chirurgie Dysostose Homme Malformation Pathologie du crâne Pathologie du système nerveux Pathologie du système ostéoarticulaire Syndrome complexe
Keyword (en)
Craniofacial Craniosynostosis Child Gene Mutation Anatomical reconstruction Stomatology Treatment Crâniofrontonasal syndrome Surgery Dysostosis Human Malformation Skull disease Nervous system diseases Diseases of the osteoarticular system Complex syndrome
Keyword (es)
Craneofacial Craneosinóstosis Niño Gen Mutación Reconstrucción anatómica Estomatología Tratamiento Cirugía Disostosis Hombre Malformación Cráneo patología Sistema nervioso patología Sistema osteoarticular patología Síndrome complejo
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations

Discipline
Osteoarticular pathology Otorhinolaryngology. Stomatology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
25472089

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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